title: Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth.
abstract: The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous loss-of-function RASA1 mutations were identified in patients with Parkes Weber syndrome and multifocal capillary malformations. This syndrome is characterised by a capillary blush on an extremity, arteriovenous microfistulas, and bony and soft tissue hypertrophy. The aim of this study was to test RASA1 in 2 disorders characterised by asymmetric limb enlargement and vascular malformations, namely Klippel-Trenaunay syndrome and regional capillary malformation with overgrowth. We did not identify any clear pathogenic change in these patients. Thus, besides clinical and radiological criteria, RASA1 testing constitutes an additional tool to differentiate Parkes Weber syndrome of capillary malformation-arteriovenous malformation (CM-AVM) from overlapping disorders.
authors.affiliation: Laboratory of Human Molecular Genetics, de Duve Institute, Brussels, Belgium ; Center for Human Genetics, Brussels, Belgium.
authors.forename: N
authors.initials: N
authors.lastname: Revencu
authors.forename: L M
authors.initials: LM
authors.lastname: Boon
authors.forename: A
authors.initials: A
authors.lastname: Dompmartin
authors.forename: P
authors.initials: P
authors.lastname: Rieu
authors.forename: W L
authors.initials: WL
authors.lastname: Busch
authors.forename: J
authors.initials: J
authors.lastname: Dubois
authors.forename: F
authors.initials: F
authors.lastname: Forzano
authors.forename: J M
authors.initials: JM
authors.lastname: van Hagen
authors.forename: S
authors.initials: S
authors.lastname: Halbach
authors.forename: A
authors.initials: A
authors.lastname: Kuechler
authors.forename: A M A
authors.initials: AM
authors.lastname: Lachmeijer
authors.forename: J
authors.initials: J
authors.lastname: Lähde
authors.forename: L
authors.initials: L
authors.lastname: Russell
authors.forename: K O J
authors.initials: KO
authors.lastname: Simola
authors.forename: J B
authors.initials: JB
authors.lastname: Mulliken
authors.forename: M
authors.initials: M
authors.lastname: Vikkula
keywords: Capillary malformation-arteriovenous malformation ; Capillary malformation ; Klippel-Trenaunay syndrome; Overgrowth; Parkes Weber syndrome; RASA1; p120RASGAP